Canonical Allele Identifier:
CA14778444
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30794239 (AMR)
Genomes Max Group AF
0.30794239 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.52476457T>C , CM000682.2:g.52476457T>C | GRCh38 |
| NC_000020.10:g.51092996T>C , CM000682.1:g.51092996T>C | GRCh37 |
| NC_000020.9:g.50526403T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754670.1:n.435-54431T>C | ||
| XR_001754671.1:n.435-54431T>C | ||
| XR_002958559.1:n.472-54431T>C |